VSX1 gene variants are associated with keratoconus in unrelated Korean patients
نویسندگان
چکیده
منابع مشابه
No VSX1 gene mutations associated with keratoconus.
PURPOSE To determine whether mutations of the VSX1 gene play a pathogenetic role in the development of keratoconus (KTCN). METHODS DNA extraction, PCR amplification, and direct sequencing of the VSX1 gene were performed in 100 unrelated patients with diagnoses of clinical and topographic features of KTCN. RESULTS Of the four previously identified presumed pathogenic mutations in the VSX1 ge...
متن کاملVSX1 gene analysis in keratoconus
PURPOSE To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients. METHODS The enntire coding region of VSX1, including intron-exon boundaries were amplified in keratoconus cases (n=50) and controls (n=50). All sequences were analyzed against the ensemble sequence (ENSG00000100987) for VXS1. RESULTS Sequencing analysis showed four alterations (p.A182A, p.R217H, p.P237P, and...
متن کاملStudying VSX1 Gene Mutations in Patients with Keratoconus of Chaharmahal and Bakhtiari Province, Iran
Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major rol...
متن کاملVSX1: a gene for posterior polymorphous dystrophy and keratoconus.
We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to th...
متن کاملAnalysis of the VSX1 gene in sporadic keratoconus patients from China
BACKGROUND Keratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadi...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2008
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-008-0319-6